724066002: Polysyndactyly and cardiac malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\...

\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)

\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Polysyndactyly and cardiac malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3429754015 Polysyndactyly and cardiac malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3429755019 Polysyndactyly and cardiac malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3429756018 Bonneau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3429757010 Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3983111000052111 syndrom med polysyndaktyli och hjärtmissbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Polysyndactyly (disorder)	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Polysyndactyly and cardiac malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3429754015	Polysyndactyly and cardiac malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429755019	Polysyndactyly and cardiac malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429756018	Bonneau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429757010	Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3983111000052111	syndrom med polysyndaktyli och hjärtmissbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)